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763770005: Familial myoclonus of cerebral cortex (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643773010 Familial cortical myoclonus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643777011 Familial myoclonus of cerebral cortex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643778018 Familial myoclonus of cerebral cortex (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404191011 Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404192016 Familial cortical myoclonus is a rare, genetic movement disorder characterised by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial cortical myoclonus Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial cortical myoclonus Is a Familial disease true Inferred relationship Some
Familial cortical myoclonus Is a Hereditary disorder of nervous system true Inferred relationship Some
Familial cortical myoclonus Is a Cerebral cortex myoclonus (disorder) true Inferred relationship Some
Familial cortical myoclonus Finding site Structure of cerebral cortex (body structure) true Inferred relationship Some 1
Familial cortical myoclonus Interprets Movement true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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